Varaico: Literature-Extracted Genetic Variants

Gene:CSMD3
Variant:p.D229V

CSMD3

498 papers

Pfam Domains

CUBaa 65–170UCSCCUB domain
Sushiaa 178–235UCSCSushi repeat (SCR repeat)
CUBaa 241–342UCSCCUB domain
Sushiaa 486–543UCSCSushi repeat (SCR repeat)
CUBaa 548–656UCSCCUB domain
Sushiaa 664–717UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

CUB and Sushi multiple domains 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198123.2
p.D229V
c.686A>T
Surrounding Variants
1 paper
NM_198123.2
p.S227L
c.680C>T
1 paper
NM_198123.2
p.P233S
c.697C>T
1 paper
NM_198123.2
p.P233H
c.698C>A
1 paper
NM_198123.2
p.I234N
c.701T>A
1 paper
NM_198123.2
p.N221D
c.661A>G
1 paper
NM_198123.2
p.A220P
c.658G>C
8 papers
NM_198123.2
p.I219M
c.657A>G
1 paper
NM_198123.2
p.P214H
c.641C>A
1 paper
NM_198123.2
p.G207G
c.621A>C
1 paper
NM_198123.2
p.C204S
c.610T>A
1 paper
NM_198123.2
p.S203N
c.608G>A
1 paper
NM_198123.2
p.I200_R201delFs
c.600_601delGG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."